Cystic fibrosis Flashcards
1
Q
What is cystic fibrosis?
A
- a genetic disease that affects the CFTR protein and causes thickening of the bodies secretions
2
Q
How is cystic fibrosis inherited?
A
- in an autosomal recessive manner
3
Q
Describe how a defect in the CFTR gene leads to cystic fibrosis?
A
CFTR DNA - CFTR protein - ion transport - altered secretions - blocked ducts, impaired mucosal defence - infection/inflammation - cystic fibrosis
4
Q
What are the symptoms of cystic fibrosis?
A
- salty sweat
- intestinal blockage
- fibrotic pancreas
- failure to thrive
- recurrent bacterial lung infections
- congenital bilateral absence of the vas deferens
- filled sinuses
- gallbladder and liver disease
5
Q
What is Class I defect in CFTR?
A
- no CFTR synthesis
6
Q
what is Class II defect in CFTR?
A
- CFRT trafficking defect
7
Q
What is a Class III defect in CFTR?
A
- dysregulation of CFRT
8
Q
What is a Class IV defect in CFTR?
A
- defective chloride conductance or channel gating
9
Q
What is a Class V defect in CFTR?
A
- Reduced CFTR transcription and synthesis
10
Q
How does CF affect the pancreas?
A
- exocrine failure: ‘sludged’ up ducts, fail to secrete digestive enzymes
- endocrine failure: destruction of pancreatic islet cells, fatty replacement of pancreatic tissue
11
Q
What is DIOS?
A
- thick mucus blocks intestines
- similar symptoms to constipation
12
Q
How is DIOS treated?
A
- gastrograffin
- laxido
- fluids
13
Q
How does cystic fibrosis affect the liver?
A
- blockage of hepatic ducts
- portal hypertension
14
Q
How is exacerbation of CF managed?
A
- antibiotics
- physiotherapy
- hydration
- increased dietary input
15
Q
What is OHPAT?
A
- patients administer IV antibiotics at home
- well tolerated/safe
- keeps patient working
